Heme/Onc
This mutation in the BCR-ABL1 gene is characteristic of chronic myelogenous leukemia (CML).
What is the Philadelphia chromosome?
This condition, characterized by intermittent episodes of monoclonal gammopathy, hyperviscosity syndrome, and neuropathy, is often seen in patients with autoimmune disease.
What is Waldenström's macroglobulinemia?
A 65-year-old patient with a history of smoking presents with dysphagia, weight loss, and iron-deficiency anemia. An endoscopy shows esophageal mucosal irregularities and a mass at the distal esophagus. The most likely diagnosis is...
What is esophageal adenocarcinoma?
This X-linked recessive disorder leads to progressive muscle weakness, and is often diagnosed with genetic testing showing deletions in the dystrophin gene.
What is Duchenne muscular dystrophy?
A patient with rapidly progressive glomerulonephritis (RPGN) has anti-glomerular basement membrane (anti-GBM) antibodies. This rare condition is strongly associated with pulmonary hemorrhage and is called...
What is Goodpasture syndrome?
A young, previously healthy patient presents with unexplained thrombocytopenia and neurologic symptoms. Bone marrow biopsy reveals blasts, and CD34+ cells are seen. The most likely diagnosis is...
What is acute leukemia (most commonly acute myelogenous leukemia, AML)?
A 32-year-old female presents with malar rash, oral ulcers, photosensitivity, and renal involvement. A double-stranded DNA test is positive. The most specific laboratory marker for this condition is...
What is anti-Smith antibody (anti-Sm)?
The most common cause of portal hypertension in the United States is cirrhosis, but in patients with normal liver enzymes, low protein ascitic fluid, and a positive Valsalva maneuver, this non-cirrhotic condition should be considered.
What is portal vein thrombosis?
This autosomal dominant genetic disorder is characterized by cyst formation in the kidneys, liver, and pancreas and can lead to renal failure.
What is polycystic kidney disease?
This rare condition is characterized by thrombotic microangiopathy, hemolysis, thrombocytopenia, and acute renal failure, often seen in the setting of diarrheal illness caused by Shiga toxin-producing E. coli.
What is hemolytic uremic syndrome (HUS)?
This is the most common cause of a hypercoagulable state in young women.
What is antiphospholipid syndrome?
This rare form of systemic vasculitis is characterized by granulomas and necrosis of the large vessels, particularly affecting the aorta and its branches. It often presents with pulselessness in the extremities.
What is Takayasu arteritis?
This autosomal dominant disorder, often presenting with pancreatitis, is caused by mutations in the PRSS1 gene, leading to trypsinogen activation in the pancreas.
What is hereditary pancreatitis?
Marfan syndrome is caused by mutations in this gene responsible for encoding a key extracellular matrix protein.
What is fibrillin-1?
A patient presents with hematuria, proteinuria, hypertension, and azotemia. A renal biopsy shows membranous nephropathy with subepithelial immune deposits. This condition is often associated with Hepatitis B or solid tumors.
What is membranous nephropathy?
The most common paraneoplastic syndrome associated with small cell lung cancer.
What is SIADH (Syndrome of Inappropriate Antidiuretic Hormone secretion)?
The hallmark finding in systemic sclerosis (scleroderma) is the presence of anti-topoisomerase I (anti-Scl-70) antibodies, which are highly specific for this condition. This type of systemic sclerosis has the worst prognosis and affects the lungs and kidneys most severely.
What is diffuse cutaneous systemic sclerosis?
This rare autoimmune condition is characterized by chronic inflammation of the small bowel, intestinal pseudo-obstruction, and anti-mitochondrial antibodies. It can also be associated with primary biliary cholangitis.
What is small intestinal bacterial overgrowth (SIBO) associated with *primary sclerosing cholangitis (PSC)?
A patient with a history of premature cataracts, short stature, and joint contractures likely has this autosomal recessive disorder.
What is Ehlers-Danlos syndrome?
This rare condition, associated with acute kidney injury (AKI) following cisplatin therapy, results in proximal tubular dysfunction and is characterized by glycosuria without hyperglycemia.
What is Fanconi syndrome?
This rare brain tumor, typically occurring in young adults, is located in the posterior fossa and has calcifications visible on MRI. It is often associated with neurofibromatosis type II.
What is ependymoma?
A 50-year-old woman with a long-standing history of Sjögren's syndrome presents with unexplained weight loss, elevated serum lactate dehydrogenase (LDH), and B symptoms (fever, night sweats). This complication of Sjögren's syndrome should be considered.
What is MALT lymphoma (mucosa-associated lymphoid tissue lymphoma)?
A patient with chronic ulcerative colitis presents with bloody diarrhea, weight loss, and liver dysfunction. A liver biopsy reveals granulomas. This condition should be suspected.
What is primary sclerosing cholangitis (PSC)?
This rare autosomal dominant condition is characterized by hypercalcemia due to parathyroid adenomas and is associated with endocrine tumors like pancreatic and pituitary tumors.
What is multiple endocrine neoplasia type 1 (MEN1)?
A kidney transplant recipient develops hypertension, hyperkalemia, and metabolic acidosis. A urine sodium of 50 mEq/L and fractional excretion of sodium (FENa) >1% are noted. The most likely diagnosis is...
What is acute tubular necrosis (ATN) from acute rejection or drug toxicity (e.g., calcineurin inhibitors)?